نتایج جستجو برای: smarca4 gene

تعداد نتایج: 1141500  

Journal: :Genome research 2016
A Rasim Barutcu Bryan R Lajoie Andrew J Fritz Rachel P McCord Jeffrey A Nickerson Andre J van Wijnen Jane B Lian Janet L Stein Job Dekker Gary S Stein Anthony N Imbalzano

The packaging of DNA into chromatin plays an important role in transcriptional regulation and nuclear processes. Brahma-related gene-1 SMARCA4 (also known as BRG1), the essential ATPase subunit of the mammalian SWI/SNF chromatin remodeling complex, uses the energy from ATP hydrolysis to disrupt nucleosomes at target regions. Although the transcriptional role of SMARCA4 at gene promoters is well...

Journal: :Genome research 2014
Catia Attanasio Alex S Nord Yiwen Zhu Matthew J Blow Simon C Biddie Eric M Mendenhall Jesse Dixon Crystal Wright Roya Hosseini Jennifer A Akiyama Amy Holt Ingrid Plajzer-Frick Malak Shoukry Veena Afzal Bing Ren Bradley E Bernstein Edward M Rubin Axel Visel Len A Pennacchio

The SMARCA4 (also known as BRG1 in humans) chromatin remodeling factor is critical for establishing lineage-specific chromatin states during early mammalian development. However, the role of SMARCA4 in tissue-specific gene regulation during embryogenesis remains poorly defined. To investigate the genome-wide binding landscape of SMARCA4 in differentiating tissues, we engineered a Smarca4(FLAG) ...

2017
Vural Tagal Shuguang Wei Wei Zhang Rolf A Brekken Bruce A Posner Michael Peyton Luc Girard TaeHyun Hwang David A Wheeler John D Minna Michael A White Adi F Gazdar Michael G Roth

Mutations in the SMARCA4/BRG1 gene resulting in complete loss of its protein (BRG1) occur frequently in non-small cell lung cancer (NSCLC) cells. Currently, no single therapeutic agent has been identified as synthetically lethal with SMARCA4/BRG1 loss. We identify AURKA activity as essential in NSCLC cells lacking SMARCA4/BRG1. In these cells, RNAi-mediated depletion or chemical inhibition of A...

2015
Joanna Moes-Sosnowska Lukasz Szafron Dorota Nowakowska Agnieszka Dansonka-Mieszkowska Agnieszka Budzilowska Bozena Konopka Joanna Plisiecka-Halasa Agnieszka Podgorska Iwona K Rzepecka Jolanta Kupryjanczyk

BACKGROUND SMARCA4 mutations have recently been identified as driving lesions of the ovarian small cell carcinoma of hypercalcemic type (SCCHT). Familial occurrence of this neoplasm was described previously. METHODS We looked for germline SMARCA4 alterations in eight patients with the SCCHT. DNA was extracted from probands' and their relatives' blood. The SMARCA4 coding sequence, previously f...

Journal: :Human molecular genetics 2015
Isabel F Coira Eva E Rufino-Palomares Octavio A Romero Paola Peinado Chanatip Metheetrairut Laura Boyero-Corral Julian Carretero Esther Farez-Vidal Marta Cuadros Fernando J Reyes-Zurita Jose A Lupiáñez Montse Sánchez-Cespedes Frank J Slack Pedro P Medina

SMARCA4 is the catalytic subunit of the SWI/SNF chromatin-remodeling complex, which alters the interactions between DNA and histones and modifies the availability of the DNA for transcription. The latest deep sequencing of tumor genomes has reinforced the important and ubiquitous tumor suppressor role of the SWI/SNF complex in cancer. However, although SWI/SNF complex plays a key role in gene e...

Journal: :Rare diseases 2014
Pilar Ramos Anthony N Karnezis William P D Hendricks Yemin Wang Waibhav Tembe Victoria L Zismann Christophe Legendre Winnie S Liang Megan L Russell David W Craig John H Farley Bradley J Monk Stephen P Anthony Aleksandar Sekulic Heather E Cunliffe David G Huntsman Jeffrey M Trent

Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), is a rare and understudied cancer with a dismal prognosis. SCCOHT's infrequency has hindered empirical study of its biology and clinical management. However, we and others have recently identified inactivating mutations in the SWI/SNF chromatin remodeling gene SMARCA4 with concomitant loss of SMARCA4 protein in the majority of SCCO...

Journal: :acta medica iranica 0
seyed hamid jamaldini department of genetics, genetic research center, university of social welfare and rehabilitation sciences, tehran, iran. mojgan babanejad department of genetics, genetic research center, university of social welfare and rehabilitation sciences, tehran, iran. reza mozaffari department of genetics, cardiogenetic research center, tehran, iran-department of genetics, shahid rajaie cardiovascular medical & research center, tehran, iran. nooshin nikzat department of genetics, genetic research center, university of social welfare and rehabilitation sciences, tehran, iran. khadijeh jalalvand department of genetics, genetic research center, university of social welfare and rehabilitation sciences, tehran, iran. azadeh badiei department of genetics, genetic research center, university of social welfare and rehabilitation sciences, tehran, iran.

coronary artery disease (cad) is the leading cause of mortality in many parts of the world. genome-wide association studies (gwas) have identified several genetic variants associated with cad in low-density lipoprotein receptor (ldlr) locus. this study was evaluated the possible association of genetic markers at ldlr locus with cad irrespective to lipid profile and as well as the association of...

2011
Anthony N Karnezis Yemin Wang Pilar Ramos William PD Hendricks Esther Oliva Emanuela D'Angelo Jaime Prat Marisa R Nucci Torsten O Nielsen Christine Chow Samuel Leung Friedrich Kommoss Stefan Kommoss Annacarolina Silva Brigitte M Ronnett Joseph T Rabban David D Bowtell Bernard E Weissman Jeffrey M Trent C Blake Gilks David G Huntsman

Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT) is a lethal and sometimes familial ovarian tumour of young women and children. We and others recently discovered that over 90% of SCCOHTs harbour inactivating mutations in the chromatin remodelling gene SMARCA4 with concomitant loss of its encoded protein SMARCA4 (BRG1), one of two mutually exclusive ATPases of the SWI/SNF chromati...

2017
Reshma Muppala Talia Donenberg Marilyn S. Huang Matthew P. Schlumbrecht

Background SMARCA4 is gene whose protein product participates in chromatin remodeling. Somatic mutations in this gene are associated with non-small cell lung cancer and malignant rhabdoid tumors, and both germline and somatic mutations are seen with small cell carcinoma of the ovary, hypercalcemic type. To date, there are no data identifying an association with more common epithelial carcinomas...

Journal: :Clinical cancer research : an official journal of the American Association for Cancer Research 2016
Erica Hlavin Bell Arup R Chakraborty Xiaokui Mo Ziyan Liu Konstantin Shilo Simon Kirste Petra Stegmaier Maureen McNulty Niki Karachaliou Rafael Rosell Gerold Bepler David P Carbone Arnab Chakravarti

PURPOSE Identification of predictive biomarkers is critically needed to improve selection of patients who derive the most benefit from platinum-based chemotherapy. We hypothesized that decreased expression of SMARCA4/BRG1, a known regulator of transcription and DNA repair, is a novel predictive biomarker of increased sensitivity to adjuvant platinum-based therapies in non-small cell lung cancer...

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